ESPE Abstracts

Background: Multiple Endocrine Neoplasia type 1 (MEN1) is a disorder with autosomal dominant inheritance pattern. It is characterized by the occurance of parathyroid, pituitary and pancreatic tumors. MEN1 presented by insulinoma as first presentation in children is very rare. On the other hand insulinoma affects 10% patients with MEN1 and occurs usually in young patients.Case: Eleven years and eight months old girl was admitted, after a syncopal episode ...

Introduction: Human ovary is commonly the target of an autoimmune attack in cases of organ- or non-organ-specific autoimmune disorders. Hashimoto’s thyroiditis (HT) is likely to be associated with ovarian dysfunction and diminished ovarian reserve. The classical hormonal test assessing ovarian reserve as early follicular phase serum levels of FSH, inhibin B and estradiol (E2), which are interdependent, and the calculation of the number of antral follicles by transvaginal ...

Background: Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) or autoimmune polyendocrinopathy type 1 (APS-1) is a rare monogenic autosomal recessive disease due to pathogenic variants in the AIRE gene. APECED usually begins during early childhood with chronic mucocutaneous candidiasis (CMC), followed by hypopathyroidism (HP) and Addison’s disease (AD); however, other endocrine and non-endocrine components may occur with a different prevalen...

Introduction: Packed red blood cell (PRBC) transfusions are an essential component of leukemia treatment regimens. Transfusion-induced iron overload can be seen after approximately 10 to 20 transfusions. Very little is known about transfusion-related iron burden in oncology populations and its possible effect on endocrine function and glycemia.Patients and methods: We evaluated growth parameters and endocrine disorders in relation to the iron overload st...

Objectives: Type one diabetes mellitus (T1DM) is an autoimmune disorder that is yet the most common type of diabetes in children and adolescents. Therefore, children and adolescents with T1DM are at increased risk for developing other autoimmune diseases including Graves’ disease. Detection of thyroid abnormalities in children is crucial since thyroid dysfunction can affect growth, pubertal maturation, insulin metabolism and gastrointestinal function. Herein, we reported ...

Introduction: McCune–Albright syndrome (MAS) is a rare disease resulting from a somatic activating mutation of GNAS1 encoding the Gs-alfa subunit of the G-protein coupled membrane receptor responsible for multiple hormonal signaling cascades leading to the classical trias: polyostotic fibrous dysplasia, café-au-lait hyperpigmentation and GnRh independent precocious puberty. Early manifestation is accompanied with multiple organ involvement and may lead to ACTH-indepe...

Introduction: McCune Albright Syndrome consists of at least 2 of the following 3 features: (1) polyostotic fibrous dysplasia (PFD), (2) Café au lait macules and (3) autonomous endocrine hyperfunction (eg, gonadotropin-independent precocious puberty). Other endocrine syndromes include hyperthyroidism, acromegaly, and Cushing syndrome.Case: 2 year old girl presented with severe hip pain, inability to walk and progressive deformity of right lower limb....

Objective: To investigate the clinical features and genetic characteristics of HRAS-associated Costello Syndrome.Method: Characteristics of clinical data and gene mutation of two cases Costello Syndrome in XX hospital were retrospectively analyzed. The related literature was searched by using search terms ‘HRAS’ or ‘Costello Syndrome’.Result: Both patients were presented with mental retardation, growth retardati...

Introduction: Beta-thalassaemia major is an inherited anemia which requires chronic transfusions and is frequently associated with endocrine dysfunctions secondary to iron overload. The aim of this study was to identify the prevalence of various endocrine complications in beta-thalassaemia major children over a period of 14 years and the factors associated with them.Materials and methods: 61 children with BTM (mean age 12.23 years) registered at the Endo...

Background: Pathogenic germline DICER1 variants cause a hereditary cancer predisposition syndrome with a variety of manifestation. In addition to conferring increased cancer risks for pleuropulmonary blastoma (PPB) and ovarian sex cord-stromal tumors, particularly Sertoli–Leydig cell tumor, individuals with pathogenic germline DICER1 variants could also have lung cysts, cystic nephroma, multinodular goiter, ciliary body medulloepithelioma, genitourinary embryonal rhabdomy...

Background/aims: Incidence of Autoimmune disease dramatically increases in children and adolescents in the past decades. But in other hand case of APS is rare. Signs and symptoms appear with different combination during the lifespan in different patients. Here we report case of APS syndrome with unusual presentation.Case presentation: Patient 16.4 years old boy with diabetes mellitus since the age of 2.6 years. Mother died at age 40, when boy had 5 years...

Introduction: Autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED) is a rare hereditary disorder with autoimmun manifestations affecting both endocrine and non-endocrine tissues. It is caused by mutations in the autoimmune regulatory (AIRE) gene which is defined by the presence of two of the three major components: Chronic mucocutaneous candidiasis, autoimmune hypoparathyroidism and Addison’s disease. Clinical manifestations may be developed during...

Introduction: Wolman Disease [WD] is a rare, autosomal recessive disease caused by lysosomal acid lipase deficiency and characterized by accumulation of cholesterol-esters and triglycerides primarily in the liver and spleen. Patients present within the first year of life with a rapidly progressive disease.Case: A girl born to consanguineous parents was diagnosed with WD due to characteristic manifestations and family history (genetically confirmed). At t...

Introduction: Pallister Hall Syndrome (PHS) is a rare autosomal dominant disorder clinically diagnosed by hypothalamic hamartoma, mesoaxial or postaxial polydactyly, and can have several endocrine abnormalities associated with.Case: We report a case of a 7 year old boy presented with precocious puberty and short stature. He was the youngest of 11 siblings, who used to have laughing spells and global developmental delay till four years of age. He had an M...

This present study investigates the impact of a common environmental hazard, the radiofrequency fields (RF), such as those regarding cell phones, cell phone base stations, wi-fi, portable phones (DECT), etc., as close to the body sources of exposure, on endocrine function. This is of importance, particularly for developing children, that have been and are exposed to this potential hazard. We performed analyses on endocrine assessments regarding stress, thyroid hand reproductiv...

Aim: This study aims to screen the genes/gene products associated with the polycystic ovary syndrome (PCOS) and to predict any possible interactions among them with high confidence. These interactions networks could contribute to the better understanding of PCOS pathophysiology and help generate new hypothesesMethods: Systems medicine approach using STRING v10.5 database and confidence level 0.7, interactions networking.Results: We...

This prospective population study focuses on metabolic differences between adolescent patients with polycystic ovary syndrome (PCOS) and age/BMI matched non-PCOS controls recruited by the Centre for Adolescent Medicine and UNESCO Chair on Adolescent Health Care of the First Department of Paediatrics, at the ‘Aghia Sophia’ Children’s Hospital, in Athens, Greece. Bioimpendance is an established non-interventional method for the determination of the body compositio...

DAX-1 is Dosage-sensitive sex reversal - Adrenal hypoplasia congenita critical region on the X chromosome 1, caused by mutation of NR0B1. It commonly presents X-Linked adrenal hypoplasia congenital, hypogonadotropic hypogonadism and infertility. However, we observed two patients whose testosterone elevated in their early infancy. Both of them are males with uneventful gestation and birth, and have a primary symptom as jaundice. For patient 1, poor feeding and pigment genital a...

Introduction: Autoimmune Polyglandular Syndrome Type 1 (APS-1) is a rare autosomal recessive hereditary disorder resulting from a mutation in the AIRE gene. APS-1 is characterized by three classic clinical features: hypoparathyroidism, Addison’s disease and chronic mucocutaneous candidiasis. Additionally to the classic triad, the phenotype of APS-1 includes several endocrine and non-endocrine autoimmune manifestations. Purpose:Topresent a rapid onset and progression of ch...

Background: Beta-ketothiolase deficiency is a rare autosomal recessive disease caused by ACAT1 gene mutation. Only 100 cases have been reported up to now.Methods: Among the 13 patients, four were diagnosed in our institute, and 9 were from a literature review of all reported Chinese cases. Two patients were diagnosed with newborn screening, and the others were diagnosed after ketoacidotic episodes. Clinical characteristics, laboratory and molecu...

Background-Hypothesis: Sudden initiation of treatment for diabetes insipidus (DI) with DDAVP causes abrupt volume expansion resulting in particularly high secretion of Atrial Natriuteric Peptide (ANP) (1). ANP blocks all stimulators of zona glomerulosa steroidogenesis, resulting in secondary mineralocorticoid deficiency and acute hyponatremia, causing renal salt wasting (RSW) (2). Cases: Two sisters, a 19-year-old girl (A) and a 7-year-old girl (B) with Wolfra...

Background: Wolfram syndrome (WS) is a rare autosomal recessive genetic disorder. We present two sisters from non-consanguineous parents, who presented to our pediatric endocrinology clinic due to severe polyuria-polydipsia with inappropriately treated DM (HbA1c 8.2% and 10.1%) and untreated DI.Methods: DNA was tested with PCR amplification and sequencing analysis (Sanger sequencing) of the entire coding region and all exon-intron splice junctions of the...

Background: Given the absence of a systematic evaluation of general public’ attitudes towards the storage and use of newborn screening (NBS) blood samples for research in China, we firstly conducted this internet-based survey to explore these issues.Methods: We conducted a national-based internet survey with self-designed questionnaire. We mainly studied three categories: 1) the willingness to have their children’s residual NBS samples used for...